Gene table of OPTN : optineurin

Gene-disease associations table

Disease IDDisease nameSource of annotation with OPTNOMIM linkNumber of associated genesgenes
PS105400AMYOTROPHIC LATERAL SCLEROSISClinVar, OMIM, HUMSAVAR link to OMIM 27CHCHD10, FIG4, ERBB4, SQSTM1, ATXN2, UBQLN2, DCTN1, FUS, NEFH, PFN1, VAPB, MATR3, ALS2, TBK1, SPG11, TARDBP, TUBA4A, SIGMAR1, SOD1, CHMP2B, PRPH, ANG, VCP, OPTN, C9orf72, HNRNPA1, SETX
606657GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TOClinVar, OMIM link to OMIM 2OPTN, OPA1
137760GLAUCOMA, PRIMARY OPEN ANGLEOMIM, HUMSAVAR link to OMIM 3LTBP2, OPTN, CYP1B1

Download the gene annotation in CSV format

Annotation of the gene OPTN

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Cell CycleR-HSA-16401703.89
Regulation of PLK1 Activity at G2/M TransitionR-HSA-25659426.66
Cell Cycle, MitoticR-HSA-692784.16
Mitotic G2-G2/M phasesR-HSA-4532746.04
G2/M TransitionR-HSA-692756.06
Associated GO terms for Molecular function
GO termGO IDGO IC
protein binding, bridgingGO:00306744.68
protein C-terminus bindingGO:00080224.5
ubiquitin-like protein bindingGO:00321824.93
Rab GTPase bindingGO:00171374.96
enzyme bindingGO:00198992.27
Ras GTPase bindingGO:00170164.2
small GTPase bindingGO:00312674.13
GTPase bindingGO:00510204.05
ubiquitin bindingGO:00431305.09
bindingGO:00054880.18
protein bindingGO:00055150.46
polyubiquitin bindingGO:00315935.98
K63-linked polyubiquitin bindingGO:00705306.79
identical protein bindingGO:00428022.63
binding, bridgingGO:00600904.57